Canonical Allele Identifier: PA2499267319
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1176640
ClinVar RCV Id: RCV001532271
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Ala2347Thr
CA394550727
NM_004380.3:c.7039G>A